Congenital Langerhans Cell Histiocytosis with Placental Involvement

Terry, Jefferson; Pluchinotta, Francesca Romana; Sanders, Stephen P.; Vergilio, Jo Anne; Hyde, Scott; Boyd, Theonia K.

doi:10.2350/12-11-1277-cr.1

Cited by 10 publications

(8 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Two cases of congenital LCH MS were reported, with placental involvement resembling chronic villitis. 19 Even though in cases of congenital LCH, the placenta may be the first diagnostic evidence of disease, we did not find chronic villitis or LCH involvement in the placenta histologically or by IHC staining of CD1a. Bone lesions are present in approximately 80% of the LCH cases as single or multiple lytic lesions that occur predominantly in the pediatric age group.…”

Section: Discussioncontrasting

confidence: 68%

Unique Case of Congenital Langerhans Cell Histiocytosis Presenting as Intrauterine Fetal Demise

et al. 2022

View full text Add to dashboard Cite

Congenital Langerhans cell histiocytosis (LCH) (formerly called Letterer–Siwe disease) is characterized by a clonal proliferation of Langerhans cells occurring in children at birth and manifests typically with multifocal cutaneous lesions, hepatosplenomegaly, lymphadenopathy, pulmonary lesions, and destructive osteolytic bone lesions. We present a case of LCH involving multiple systems high-risk organs (LCH MS-RO+), in a 32-week stillborn from a 20-year-old G2A1. The fetus was mildly hydropic and pale. Apart from maceration, the skin showed multiple targetoid lesions over the face, trunk, and limbs. There was hepatosplenomegaly and a pale brain. The placenta was large and bulky. Despite severe autolysis, histological examination showed disseminated histiocytes with multinucleated giant cells in the skin, lungs, thymus, mesenteric lymph nodes, spleen, and brain. By immunohistochemistry, the histiocytes were positive for S100, CD1a, and Langerin (CD207), confirming the diagnosis of LCH. There was extramedullary hematopoiesis in the spleen, brain, and placenta. Targeted next-generation sequencing performed on thymic DNA did not show the BRAF p.V600E variant but did show the MAP2K1 p.F53_Q58delinsL. Infants with LCH pose a diagnostic challenge due to their heterogeneous presentations. Our case is unusual in that the newborn presented with severe multiorgan involvement including brain and intrauterine death. LCH is still poorly understood requiring further genetic and molecular studies.

show abstract

Section: Discussioncontrasting

confidence: 68%

Unique Case of Congenital Langerhans Cell Histiocytosis Presenting as Intrauterine Fetal Demise

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Case 7 —A newborn infant had congenital MS LCH involving the placenta and widespread systemic disease, including the visceral organs, thymus, thyroid, skin, and placenta; however, no high-risk involvement was noted. He died at 7 weeks of age from extensive lung involvement and associated refractory respiratory failure before treatment could be initiated (previously published [36]). Postmortem examination showed that mostly extrathymic, mediastinal LCH involvement surrounded atrophic/remnant thymic lobules.…”

Section: Resultsmentioning

confidence: 99%

“…He died at 7 weeks of age from extensive lung involvement and associated refractory respiratory failure before treatment could be initiated (previously published [36]). Postmortem examination showed that mostly extrathymic, mediastinal LCH involvement surrounded atrophic/remnant thymic lobules.…”

Section: Case Studymentioning

confidence: 97%

“…Although many MS LCH cases in the literature do not describe the histologic pattern of thymic LCH involvement, our cases, together a few reports with ancillary confirmation describe a variable histologic appearance that included confined medullary involvement to diffuse gland involvement with fibrosis (Table 3). Of note, 3 cases harbored the BRAF V600E mutation, in which one demonstrated a thymic LCH infiltrate [10,36]. In addition, none of these cases had a history of MG or lymphoma.…”

Section: Review Of Cases Including Those From the Literaturementioning

confidence: 99%

See 1 more Smart Citation

Histologic Patterns of Thymic Involvement in Langerhans Cell Proliferations: A Clinicopathologic Study and Review of the Literature

et al. 2015

View full text Add to dashboard Cite

Thymic involvement by Langerhans cell histiocytosis (LCH) has been described mainly in isolated case reports. A description of the histopathologic patterns of LCH proliferations in the thymus, together with therapeutic implications, has not, to our knowledge, been previously addressed. The pathology consultation files at Children's Hospital of Pittsburgh of the University of Pennsylvania Medical Center were reviewed for cases of thymic involvement by LCH. Relevant cases in the literature were also reviewed, and the histopathology and clinical course of those cases were collected. Nine consultation cases of thymic involvement were reviewed, together with 23 cases in the literature, which provided adequate pathologic description and ancillary confirmation (n = 32), revealing 4 distinct pathologic groups. Group 1 showed microscopic collection of hyperplastic LCH-like cells in incidental thymectomies of patients without LCH disease, requiring no further treatment (n = 7; 22%). Group 2 showed solitary and/or cystic LCH of the thymus with gland disruption, and at least 3 cases resolved without systemic therapy (n = 10; 31%). Group 3 showed more variable thymic involvement in multisystemic LCH disease, with either a medullary restricted pattern or more diffuse gland involvement, requiring adjuvant therapy and having a higher mortality rate (n = 13; 41%). Group 4 showed a mixed histiocytic lesion with a concurrent LCH and juvenile xanthogranuloma-like proliferation (n = 2; 6%). Thymic involvement in LCH is quite rare. Based on our cases and those in the literature, we propose 4 distinct pathologic groups of thymic involvement in Langerhans cell proliferations with relevance for diagnosis and treatment.

show abstract

“…3 It may present as an isolated lesion, as multiple lesions involving a single organ system (skin or bone being the most common), or as multisystem disease presenting in infancy and involving multiple organs, such as bone marrow, liver, and lung (Letterer-Siwe disease). 1 Unifocal disease is generally associated with a good prognosis, whereas multisystem or multifocal disease is associated with a fulminant course and a poor prognosis. Morphologically, LCH is characterized by histiocytic immune cells showing folded nuclei and prominent nuclear grooves with admixed eosinophils.…”

Section: Introductionmentioning

confidence: 99%

The Placenta in Congenital Langerhans Cell Histiocytosis: A Case Report of Unusual Involvement of Chorionic Plate and Umbilical Vein

Ahmad

Warren

Naumaan³

et al. 2023

Pediatr Dev Pathol

View full text Add to dashboard Cite

The congenital presentation of Langerhans cell histiocytosis (LCH) is a rare presentation of an uncommon neoplastic process. Concurrent placental parenchymal involvement is even more rare, with just 2 cases of congenital multisystem LCH with placental involvement reported in English medical literature thus far. Here, we present a case of a liveborn male born at 37-weeks, 6-day gestation with congenital LCH focally involving the placenta. Langerhans cells were identified in an area of the placenta showing an unusual mononuclear cell infiltrate in the wall of the umbilical vein. Langerhans cells were also focally identified in areas of chronic villitis, as well as normal-appearing chorionic plate. The examination of the placenta in cases of clinical suspicion of LCH can be of paramount importance since it may provide the early diagnostic evidence of LCH. In this context, placental involvement by LCH should be considered even in the absence of abnormal histology.

show abstract

Congenital Langerhans Cell Histiocytosis with Placental Involvement

Cited by 10 publications

References 12 publications

Unique Case of Congenital Langerhans Cell Histiocytosis Presenting as Intrauterine Fetal Demise

Unique Case of Congenital Langerhans Cell Histiocytosis Presenting as Intrauterine Fetal Demise

Histologic Patterns of Thymic Involvement in Langerhans Cell Proliferations: A Clinicopathologic Study and Review of the Literature

The Placenta in Congenital Langerhans Cell Histiocytosis: A Case Report of Unusual Involvement of Chorionic Plate and Umbilical Vein

Contact Info

Product

Resources

About